caa a22 4500 397575777 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.857 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.857 Close Mapping of the Focal Non-Epidermolytic Palmoplantar Keratoderma (PPK) Locus Associated with Oesophageal Cancer (TOC) [Elektronische Daten] [David P. Kelsell, Janet M. Risk, Irene M. Leigh, Howard P. Stevens, Anthony Ellis, Hans C. Hennies, André Reis, Jean Weissenbach, D. Timothy Bishop, Nigel K. Spurr, John K. Field] Focal non-epidermolytic palmoplantar keratoderma (PPK or palmoplantar ectodermal dysplasia type III) is associated with oesophageal cancer in three families: two large pedigrees located in Liverpool, UK and in the midwestern American states and one smaller family from Germany. In these families, the PPK is inherited as autosomal dominant and has a late onset, usually manifesting between 7 and 8 years of age. The disease is characterised by thickening of the pressure areas of the soles, but is not restricted to the feet and also presents with oral leukokeratosis and follicular hyperkera-tosis. The disease locus [previously termed the ‘tylosis oesophageal cancer gene' (TOC) locus] has been mapped to 17q23-qter by linkage analysis. This region is located telomeric to the keratin 16 gene, in which mutations have been identified in focal PPK families who show no increased cancer risk. We describe the close mapping of this locus to the interval between AFMb054zf9 and D17S1603 using haplotype analysis of additional Généthon markers in the region and show that although the American family is unlikely to be related to either of the other two, the UK and German pedigrees may share a common descent. This work provides a basis for positional cloning and candidate gene analysis in order to identify a gene that may be involved in familial oesophageal cancer. © 1996 Oxford University Press Kelsell David P. ICRF Human Genetic Resources, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts., UK aut Risk Janet M. Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, The University of Liverpool, PO Box 147,Liverpool L69 3BX, UK aut Leigh Irene M. ICRF Skin Tumour Laboratory, London Hospital Medical College, London, UK aut Stevens Howard P. ICRF Skin Tumour Laboratory, London Hospital Medical College, London, UK aut Ellis Anthony Department of Gastroenterology, Broadgreen Hospital, Liverpool L14 3LB, UK aut Hennies Hans C. Institute of Human Genetics, Virchow-Klinikum, Humboldt University, D-13353 Berlin, Germany aut Reis André Institute of Human Genetics, Virchow-Klinikum, Humboldt University, D-13353 Berlin, Germany aut Weissenbach Jean CNRS URA 1992, Généthon, 1 rue de l'Internationale, BP 60, 91002 Evry Cedex, France aut Timothy Bishop D. ICRF Genetic Epidemiology Laboratory, St James' University Hospital, Leeds, Yorkshire LS2 9LY, UK aut Spurr Nigel K. ICRF Human Genetic Resources, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts., UK aut Field John K. Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, The University of Liverpool, PO Box 147,Liverpool L69 3BX, UK aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 857-860 0964-6906 5:6<857 1996 5 hmg https://doi.org/10.1093/hmg/5.6.857 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.857 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kelsell David P. ICRF Human Genetic Resources, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts., UK aut NATIONALLICENCE 700 1- Risk Janet M. Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, The University of Liverpool, PO Box 147,Liverpool L69 3BX, UK aut NATIONALLICENCE 700 1- Leigh Irene M. ICRF Skin Tumour Laboratory, London Hospital Medical College, London, UK aut NATIONALLICENCE 700 1- Stevens Howard P. ICRF Skin Tumour Laboratory, London Hospital Medical College, London, UK aut NATIONALLICENCE 700 1- Ellis Anthony Department of Gastroenterology, Broadgreen Hospital, Liverpool L14 3LB, UK aut NATIONALLICENCE 700 1- Hennies Hans C. Institute of Human Genetics, Virchow-Klinikum, Humboldt University, D-13353 Berlin, Germany aut NATIONALLICENCE 700 1- Reis André Institute of Human Genetics, Virchow-Klinikum, Humboldt University, D-13353 Berlin, Germany aut NATIONALLICENCE 700 1- Weissenbach Jean CNRS URA 1992, Généthon, 1 rue de l'Internationale, BP 60, 91002 Evry Cedex, France aut NATIONALLICENCE 700 1- Timothy Bishop D. ICRF Genetic Epidemiology Laboratory, St James' University Hospital, Leeds, Yorkshire LS2 9LY, UK aut NATIONALLICENCE 700 1- Spurr Nigel K. ICRF Human Genetic Resources, Clare Hall Laboratories, Blanche Lane, South Mimms, Herts., UK aut NATIONALLICENCE 700 1- Field John K. Molecular Genetics and Oncology Group, Department of Clinical Dental Sciences, The University of Liverpool, PO Box 147,Liverpool L69 3BX, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 857-860 0964-6906 5:6<857 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford